Next Generation Sequencing As an Aid to Diagnosis and Treatment of an Unusual Pediatric Brain Cancer
| Autor: | Rachana Tyagi, John Glod, Robert S. DiPaola, Lorna Rodriguez-Rodriguez, Roy H. Rhodes, David Weissmann, Shridar Ganesan, Sudipta Roychowdhury, Michael P. Kane, Mihae Song, Kim M. Hirshfield, Archana Sharma, Atif J. Khan |
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| Rok vydání: | 2014 |
| Předmět: |
Intracranial tumor
medicine.medical_treatment lcsh:Medicine Medicine (miscellaneous) Case Report Gene mutation Bioinformatics DNA sequencing Targeted therapy medicine gene mutation Vemurafenib Pathological next generation sequencing metastatic glioma BRAF V600E business.industry CKDN2A lcsh:R glioblastoma Cancer medicine.disease Pediatric brain pediatric glioma vemurafenib business medicine.drug |
| Zdroj: | Journal of Personalized Medicine, Vol 4, Iss 3, Pp 402-411 (2014) Journal of Personalized Medicine |
| ISSN: | 2075-4426 |
| Popis: | Classification of pediatric brain tumors with unusual histologic and clinical features may be a diagnostic challenge to the pathologist. We present a case of a 12-year-old girl with a primary intracranial tumor. The tumor classification was not certain initially, and the site of origin and clinical behavior were unusual. Genomic characterization of the tumor using a Clinical Laboratory Improvement Amendment (CLIA)-certified next-generation sequencing assay assisted in the diagnosis and translated into patient benefit, albeit transient. Our case argues that next generation sequencing may play a role in the pathological classification of pediatric brain cancers and guiding targeted therapy, supporting additional studies of genetically targeted therapeutics. |
| Databáze: | OpenAIRE |
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